|
Patients ID
|
MSA
|
COA
|
JOS
|
CCBN
|
MCSF
|
AJSF
|
YPM
|
JPM
|
RBB
|
RoBB
|
YMB
|
WMC
|
JCTFS
|
LBP
|
LAS
|
|---|
|
File number
|
622076
|
537048
|
486383
|
568752
|
616423
|
561932
|
537160
|
537162
|
569901
|
569575
|
565119
|
379028
|
491362
|
577557
|
578487
|
|
Birthday
|
10/8/1985
|
19/9/1988
|
10/9/1992
|
19/7/1984
|
26/9/2004
|
28/1/2002
|
20/4/1995
|
20/4/1995
|
2/9/1997
|
2/9/1997
|
28/4/1992
|
24/6/1989
|
2/9/1995
|
13/10/1998
|
21/9/2001
|
|
Gender
|
F
|
F
|
F
|
F
|
F
|
M
|
M
|
M
|
M
|
M
|
M
|
M
|
M
|
M
|
M
|
|
BW (g)
|
2360
|
3100
|
2850
|
3350
|
2580
|
2625
|
2750
|
3000
|
2230
|
3050
|
3340
|
3630
|
2010
|
1235
|
2155
|
|
BL (cm)
|
45
|
45
|
48
|
50
|
48
|
47
|
-
|
-
|
-
|
-
|
48
|
48
|
43
|
39
|
-
|
|
BHC (cm)
|
31
|
-
|
-
|
-
|
32
|
33
|
-
|
-
|
-
|
-
|
-
|
-
|
-
|
31
|
-
|
|
Age (years)
|
20
|
17
|
13
|
20
|
115/12
|
4
|
10
|
10
|
82/12
|
82/12
|
13
|
15
|
9
|
6
|
4
|
|
W (kg)
|
49.5
|
43.9
|
67
|
67.5
|
29.8
|
12.5
|
41.5
|
39.2
|
27.5
|
28
|
34.4
|
63.5
|
23
|
17
|
11.3
|
|
H (cm)
|
142
|
134
|
156
|
150
|
134.5
|
97.5
|
137.5
|
134.5
|
125
|
128
|
137.5
|
160
|
121.5
|
111
|
100
|
|
HC (cm)
|
50.5
|
52
|
52.5
|
53
|
51.5
|
44.5
|
54
|
53
|
51
|
51
|
52
|
58
|
51
|
49.5
|
48
|
|
MF
|
Y
|
N
|
N
|
Y
|
N
|
Y
|
N
|
N
|
Y
|
Y
|
N
|
N
|
N
|
Y
|
Y
|
|
DD
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
|
Dysmorphism
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
|
CS
|
N
|
N
|
N
|
N
|
N
|
N
|
N
|
N
|
N
|
N
|
Y
|
Y
|
N
|
N
|
N
|
|
FH
|
N
|
N
|
N
|
N
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
Y
|
|
LD/MR
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
Y/Y
|
|
X fragile
|
NEG
|
-
|
NEG
|
NEG
|
-
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
|
NeuroEv
|
Y
|
Y
|
Y
|
Y
|
-
|
Y
|
Y
|
Y
|
Y
|
Y
|
-
|
Y
|
Y
|
Y
|
Y
|
|
CCT / MR
|
ANL
|
NL
|
NL
|
NL
|
NL
|
NL
|
NL
|
NL
|
ANL
|
ANL
|
ANL
|
ANL
|
ANL
|
NL
|
ANL
|
|
EEG
|
ANL
|
-
|
NL
|
-
|
-
|
ANL
|
NL
|
NL
|
ANL
|
ANL
|
ANL
|
ANL
|
ANL
|
ANL
|
NL
|
|
TORCHS
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
NEG
|
ANL
|
NEG
|
NEG
|
|
IEM
|
NEG
|
NEG
|
I
|
NEG
|
NEG
|
NEG
|
I
|
I
|
I
|
I
|
NEG
|
NEG
|
NEG
|
NEG
|
I
|
|
BERA
|
NL
|
NL
|
NL
|
NL
|
NL
|
-
|
NL
|
NL
|
-
|
-
|
NL
|
NL
|
ANL
|
NL
|
NL
|
|
Ophtalmo Ev
|
NL
|
NL
|
NL
|
NL
|
NL
|
NL
|
ANL
|
ANL
|
NL
|
NL
|
NL
|
ANL
|
ANL
|
NL
|
ANL
|
|
DeVries
|
8
|
5
|
4
|
5
|
7
|
8
|
4
|
5
|
5
|
7
|
6
|
5
|
8
|
8
|
7
|
- Birth Weight (BW); Birth Length (BL); Birth Head Circumference (BHC); Weight (W); Height (H); Head Circumference (HC); Malformation (MF); Developmental Delay (DD); Consanguinity; (CS) Familial History (FH); Learning Disabilities (LD)/ Mental Retardation (MR); Neurologic Evaluation (NeuroEv); Cranio Computerized Tomography (CCT) or Cranio Magnetic Resonance (CMR); Electroencephalography (EEG); Toxoplasmosis, rubella, citomegalovirus, herpes virus and syphilis sorology (TORCHS); Inborn Erros of Metabolism (IEM); otoacustic potencials evoked evaluation (BERA); Ophtalmo Evaluation (Ophtalmo Ev).
- Female (F); Male (M); Yes (Y); No (N); Negative (NEG); Inconclusive (I); Normal (NL); Abnormal (ANL) clinical score (DeVries).
